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Eur Respir J. 2014 Aug;44(2):341-50. doi: 10.1183/09031936.00216013. Epub 2014 May 29.

The clinical and genetic features of COPD-asthma overlap syndrome.

Author information

1
Channing Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA remeh@channing.harvard.edu.
2
Channing Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
3
Channing Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
4
Dept of Epidemiology, Johns Hopkins University, Baltimore, MD, USA.
5
Dept of Medicine, University of California San Diego, La Jolla, CA, USA.
6
Dept of Pulmonary, Allergy and Critical Care Medicine, University of Alabama, Birmingham, AL, USA.
7
Clinical Research Imaging Centre, University of Edinburgh, Edinburgh, UK.
8
Dept of Medicine, National Jewish Health, Denver, CO, USA.

Abstract

Individuals with chronic obstructive pulmonary disease (COPD) and asthma are an important but poorly characterised group. The genetic determinants of COPD and asthma overlap have not been studied. The aim of this study was to identify clinical features and genetic risk factors for COPD and asthma overlap. Subjects were current or former smoking non-Hispanic whites or African-Americans with COPD. Overlap subjects reported a history of physician-diagnosed asthma before the age of 40 years. We compared clinical and radiographic features between COPD and overlap subjects. We performed genome-wide association studies (GWAS) in the non-Hispanic whites and African-American populations, and combined these results in a meta-analysis. More females and African-Americans reported a history of asthma. Overlap subjects had more severe and more frequent respiratory exacerbations, less emphysema and greater airway wall thickness compared to subjects with COPD alone. The non-Hispanic white GWAS identified single nucleotide polymorphisms in the genes CSMD1 (rs11779254, p=1.57 × 10(-6)) and SOX5 (rs59569785, p=1.61 × 10(-6)) and the meta-analysis identified single nucleotide polymorphisms in the gene GPR65 (rs6574978, p=1.18 × 10(-7)) associated with COPD and asthma overlap. Overlap subjects have more exacerbations, less emphysema and more airway disease for any degree of lung function impairment compared to COPD alone. We identified novel genetic variants associated with this syndrome. COPD and asthma overlap is an important syndrome and may require distinct clinical management.

Comment in

PMID:
24876173
PMCID:
PMC4154588
DOI:
10.1183/09031936.00216013
[Indexed for MEDLINE]
Free PMC Article

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